Variant report

Variant	rs73979517
Chromosome Location	chr2:178544343-178544344
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59259791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979513	0.93[AFR][1000 genomes]
rs73979518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979519	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9679360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007925	chr2:178535922-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178535000-178544800	Weak transcription	Right Atrium	heart
2	chr2:178536000-178544600	Weak transcription	Psoas Muscle	Psoas
3	chr2:178536600-178556000	Weak transcription	Pancreas	Pancrea
4	chr2:178540000-178547400	Enhancers	Fetal Kidney	kidney
5	chr2:178540200-178544600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:178540600-178544600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:178541400-178544600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:178541400-178544600	Weak transcription	Ovary	ovary
9	chr2:178541400-178544800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:178541400-178545000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:178541600-178544800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:178541800-178544800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:178543400-178544600	Enhancers	Fetal Intestine Small	intestine
14	chr2:178543400-178544800	Enhancers	Fetal Intestine Large	intestine
15	chr2:178543400-178546400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:178543800-178545000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:178544000-178548000	Enhancers	K562	blood
18	chr2:178544200-178545000	Weak transcription	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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